ASCC1 p.Pro132=
c.396C>T · rs138030710 · VCV2174486
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0253%, afr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.742 | pathogenic-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 1.1 | GERP 0.078, phastCons 1 |
| Overall | ||
| CADD | 9.985 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0253%
African / African-American · 19/75,020 alleles
Filtering AF
0.0165%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0137%
Overall
0.00192%
31/1,613,610 alleles · ultra-rare
exomes 14/1,461,384 · genomes 17/152,226 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.0253% | 3,948 |
| Admixed American | 0.0133% | 7,501 |
| Remaining individualsnot grpmax-eligible | 0.0048% | 20,832 |
| European (non-Finnish) | 8.47e-05% | 1,180,008 |
Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.
Variant & gene context
- Gene
- ASCC1
- Protein
- p.Pro132=
- Coding
- c.396C>T
- MANE Select
- NM_001198800
- dbSNP
- rs138030710
- Type
- single nucleotide variant
- Location
- chr10:72196904 (GRCh38)
- Gene constraint
- LOEUF 1.002 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 65.70 · 1 PDB
- Residue 132
- the kh domain
Similar variants
- ASCC1 c.311-2A>G Pathogenic ★★ same type
- ASCC1 c.626+1G>A Pathogenic/Likely pathogenic ★★ same type
- ASCC1 c.871+1G>A Pathogenic/Likely pathogenic ★★ same type
- ASCC1 p.Arg110Ter Pathogenic ★★ same type
- ASCC1 p.Arg117Ter Pathogenic ★★ same type
- ASCC1 p.Arg128Ter Pathogenic ★★ same type
- ASCC1 p.Gln195Ter Pathogenic/Likely pathogenic ★★ same type
- ASCC1 p.Gln262Ter Pathogenic ★★ same type
Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →
Cite Sugi Variant
Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/ascc1-p-pro132 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown